RET-related Hirschsprung disease

Hirschsprung disease (HSCR) is multi-genic congenital disease of the large intestine characterized by absence of neuronal ganglia, colon enlargement, and constipation.

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Test Code: 2680 Test Name: RET seq TAT 14-21 days Gene: 1
Test Code: 2682 Test Name: RET specific site analysis TAT 7-14 days Gene: 1

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Test Description

Our RET Gene Sequence Analysis includes next generation sequencing (NGS) of the RET gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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